Inherited thrombocytopenias (IT) are a heterogeneous group of diseases caused by at least 20 different genes. At present, these genes account for approximately 50% of cases, suggesting that novel genes have yet to be identified for a comprehensive understanding of platelet biogenesis defects. This review provides an update of ITs focusing on the molecular basis and potential pathogenic mechanisms affecting megakaryopoiesis and platelet production.
Titolo: | Molecular basis of inherited thrombocytopenias | |
Autori: | ||
Data di pubblicazione: | 2016 | |
Rivista: | ||
Abstract: | Inherited thrombocytopenias (IT) are a heterogeneous group of diseases caused by at least 20 different genes. At present, these genes account for approximately 50% of cases, suggesting that novel genes have yet to be identified for a comprehensive understanding of platelet biogenesis defects. This review provides an update of ITs focusing on the molecular basis and potential pathogenic mechanisms affecting megakaryopoiesis and platelet production. | |
Handle: | http://hdl.handle.net/11368/2841118 | |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1111/cge.12607 | |
URL: | http://onlinelibrary.wiley.com/doi/10.1111/cge.12607/abstract;jsessionid=6F41BD65F22267EF0C85DE2447CBE9A3.f03t04 | |
Appare nelle tipologie: | 1.1 Articolo in Rivista |
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Savoia-2016-Clinical_Genetics.pdf | Documento in Versione Editoriale | Digital Rights Management non definito | Administrator Richiedi una copia |
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